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Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.
Features include very common findings: Fragile skin; and common findings: Abnormality of the urinary system, Carious teeth, Milia, and Atrophic scars and others. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 7 | Fragile skin, Abnormal blistering of the skin, Nail dystrophy |
Phenotype severity distribution: 1 very common feature, 11 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for recessive dystrophic epidermolysis bullosa inversa.
4 publications have been identified in PubMed for recessive dystrophic epidermolysis bullosa inversa. Research spans Epidemiology / Natural History (75%) and Review / Meta-Analysis (25%).
Heppell C (2026). [PMID: 41637086](https://pubmed.ncbi.nlm.nih.gov/41637086/). *JAMA dermatology*. [Review / Meta-Analysis]
Jeffs E (2026). [PMID: 42087161](https://pubmed.ncbi.nlm.nih.gov/42087161/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Mellerio JE (2025). [PMID: 39874247](https://pubmed.ncbi.nlm.nih.gov/39874247/). *Clinical and experimental dermatology*. [Epidemiology / Natural History]
Jeffs E (2024). [PMID: 39394129](https://pubmed.ncbi.nlm.nih.gov/39394129/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 2:31 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Digestive system
2 |
Gastrointestinal inflammation, Esophageal stricture |
Kidneys and urinary system | 1 | Abnormality of the urinary system |
Growth and development | 1 | Growth delay |
Blood and immune system | 1 | Low red blood cell count (anemia) |
AI-curated news mentioning recessive dystrophic epidermolysis bullosa inversa
Updated Jun 2, 2026
Research highlights the antifibrotic effects of N-acetylcysteine in fibroblasts from chronic wounds associated with recessive dystrophic epidermolysis bullosa. This study may inform future therapeutic strategies for managing fibrosis in this rare skin condition.
The Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES) reveals significant insights into health-related quality of life for patients with recessive dystrophic epidermolysis bullosa. This study contributes valuable data to understanding the patient experience in this rare skin condition.
A case report highlights the challenges of managing recessive dystrophic epidermolysis bullosa in a resource-limited setting at Mohamed Adam Sheikh Children's Teaching Hospital in Hargeisa, Somaliland. This study underscores the need for improved healthcare resources for rare diseases in underserved regions.
INmune Bio will present new clinical data on CORDStrom™ for recessive dystrophic epidermolysis bullosa (RDEB) in an upcoming webinar. The MissionEB Phase III trial highlights CORDStrom™ as a systemic, disease-modifying therapy, contrasting with current treatments that focus solely on topical wound care.